Canonical Allele Identifier: CA349424095
Community Standard Title: NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580008G>A , CM000664.2:g.178580008G>A GRCh38
NC_000002.11:g.179444735G>A , CM000664.1:g.179444735G>A GRCh37
NC_000002.10:g.179152981G>A NCBI36
NG_011618.3:g.255795C>T , LRG_391:g.255795C>T
NG_051363.1:g.62182G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67279C>T (TTN) MANE Select NP_001254479.2:p.Arg22427Ter
ENST00000589042.5:c.67279C>T (TTN) MANE Select ENSP00000467141.1:p.Arg22427Ter
NM_001256850.1:c.62356C>T (TTN) NP_001243779.1:p.Arg20786Ter
NM_003319.4:c.40084C>T (TTN) NP_003310.4:p.Arg13362Ter
NM_133378.4:c.59575C>T (TTN) NP_596869.4:p.Arg19859Ter
NM_133432.3:c.40459C>T (TTN) NP_597676.3:p.Arg13487Ter
NM_133437.4:c.40660C>T (TTN) NP_597681.4:p.Arg13554Ter
NR_038271.1:n.596+8559G>A (TTN-AS1)
NR_038272.1:n.2044-2564G>A (TTN-AS1)
ENST00000342175.10:c.40660C>T (TTN) ENSP00000340554.6:p.Arg13554Ter
ENST00000342175.11:c.40660C>T (TTN) ENSP00000340554.6:p.Arg13554Ter
ENST00000342992.10:c.59575C>T (TTN) ENSP00000343764.6:p.Arg19859Ter
ENST00000342992.11:c.59575C>T (TTN) ENSP00000343764.6:p.Arg19859Ter
ENST00000359218.10:c.40459C>T (TTN) ENSP00000352154.5:p.Arg13487Ter
ENST00000359218.9:c.40459C>T (TTN) ENSP00000352154.5:p.Arg13487Ter
ENST00000460472.6:c.40084C>T (TTN) ENSP00000434586.1:p.Arg13362Ter
ENST00000591111.5:c.62356C>T (TTN) ENSP00000465570.1:p.Arg20786Ter
ENST00000615779.4:c.62356C>T (TTN) ENSP00000483597.1:p.Arg20786Ter
XM_011511729.1:c.66376C>T (TTN) XP_011510031.1:p.Arg22126Ter
XM_011511730.1:c.40270C>T (TTN) XP_011510032.1:p.Arg13424Ter
XM_011511731.1:c.40129C>T (TTN) XP_011510033.1:p.Arg13377Ter
XM_017004819.1:c.66172C>T (TTN) XP_016860308.1:p.Arg22058Ter
XM_017004820.1:c.61570C>T (TTN) XP_016860309.1:p.Arg20524Ter
XM_017004821.1:c.61567C>T (TTN) XP_016860310.1:p.Arg20523Ter
XM_017004822.1:c.58609C>T (TTN) XP_016860311.1:p.Arg19537Ter
XM_017004823.1:c.40225C>T (TTN) XP_016860312.1:p.Arg13409Ter
XM_024453094.1:c.61720C>T (TTN) XP_024308862.1:p.Arg20574Ter
XM_024453095.1:c.61717C>T (TTN) XP_024308863.1:p.Arg20573Ter
XM_024453096.1:c.61150C>T (TTN) XP_024308864.1:p.Arg20384Ter
XM_024453097.1:c.58492C>T (TTN) XP_024308865.1:p.Arg19498Ter
XM_024453098.1:c.58411C>T (TTN) XP_024308866.1:p.Arg19471Ter
XM_024453099.1:c.40174C>T (TTN) XP_024308867.1:p.Arg13392Ter
XM_024453100.1:c.30028C>T (TTN) XP_024308868.1:p.Arg10010Ter